Carrier Screening Market Size, Share & Growth Report | 2031

Report Description

The global carrier screening market size was valued at USD 2.1 Bn in 2022 and is likely to reach USD 7.1 Bn by 2031, expanding at a CAGR of 14.1% during 2023 – 2031. The market growth is attributed to the growing emphasis on the prevention and early detection of diseases coupled with the rising application in the detection of genetic disorders.

Carrier screenings are tests that determine if an individual carries a gene for certain genetic disorders. It enables finding the probability of having a genetic disorder in newborns. Tests are carried out by collecting samples from the inside of the cheek in the form of saliva, blood, or tissues. Carrier screening tests are widely carried out in genetic disease diagnostics.

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A person who inherits a recessive variant gene for a genetic mutation or trait is known as carrier. The carrier may not display the trait or symptoms of a disease. Yet, carriers are likely to pass on the allele to their offspring. If the recessive allele is inherited from both parents, the offspring may express the genetic disorder. The probability of two carriers having a child with the inherited disease is as high as up to 25%. The recessive nature of genes is responsible for such a phenomenon. 

Positive test results mean having the genes that may cause genetic disorders whereas negative test results mean not having the gene. Tests are carried out on the partner who is more likely to be the carrier. If the test results are negative no further testing is recommended. For a positive test result, the other partner is tested. The carrier screening tests are carried out before or during pregnancy.

The COVID-19 pandemic disrupted the overall healthcare service with the abrupt closing of businesses due to the lockdown restrictions imposed by the government across the world. This resulted in reduced human resources in the healthcare facilities including laboratories, hospitals, and clinics. However, the demand for carrier screening services declined due to disruptions in genetic counseling for newborn screening (NBS) programs.

Carrier Screening Market Dynamics

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Major Drivers

Growing demand for the early detection of diseases is expected to drive the market. Early detection reduces the long-term complications and offers the best chance of cure. Rising prevalence of genetic diseases and increasing innovations in diagnosis for cost-effective testing are likely to fuel the market.

Existing Restraints

High costs associate with carrier screening tests is anticipated to hinder the market. Moreover, the scarcity of skilled professionals and the lack of standard guidelines for carrier screening are likely to restraints the market.

Emerging Opportunities

Growing investments in healthcare analytical testing services and preventive healthcare facilities are expected to provide lucrative growth opportunities for the carrier screening market. Government across the globe constantly rising their funding in healthcare sector for developing superior healthcare facilities. Moreover, rising launch of novel tests for diagnosis accelerates the market.

Scope of the Carrier Screening Market Report

The report includes an assessment of the market, trends, segments, and regional markets. Overview and dynamics have also been included in the report.

Market Segment Insights

Based on screening type, the market is bifurcated into targeted disease carrier and expanded carrier. The expanded carrier segment is further classified into customized panel testing and predesigned panel testing. The expanded carrier segment is projected to expand at a considerable CAGR during the forecast period due to the increasing use of new throughput technologies such as microarray and sequencing technologies. It detects multiple disorders from a single sample and helps in determining the risk of having a child with a genetic disease.

The expanded carrier screening facilitated with new genetic testing technologies, which allows for a more thorough determination of the risks of a large number of diseases. It has the ability to detects whether the parents are unknowingly carrying genetic conditions that may be passed to their children. It offers screening for multiple autosomal and X-linked recessive disorders.

The targeted disease carrier segment is anticipated to gain significant shares of the market in the coming years, owing to the rising focus towards testing for specific ethnicity, groups, or race. Genetic disorders can be detected in individuals with a family history for specific genetic disorders through targeted disease carrier screening. The ability to identify any disease at an early stage is likely to contribute to segment growth.

In terms of medical condition, the market is divided into pulmonary, genetic disorders, neurological, hematological, and others. The genetic disorders segment is projected to hold a large share of the market during the projected period due to the increasing cases of recessive disorders that affects newborns. According to the American College of Obstetricians and Gynecologists, carrier screening should be mandatory for every pregnant woman to identify recessive disorders at an early stage.

Cystic fibrosis is a major concern affecting newborns. There is 25% chance of a newborn being a carrier if both parents are carriers. Spinal muscular atrophy (SMA) is a common recessive disorder with a high probability of 98% of affected cases inheriting a non-working copy from their parents due to genetic disorders. As per a study completed by Egyptian Journal of Medical Human Genetics in 2022, the detection frequency of SMA carriers is high and is a key genetic cause of death among newborns. Thus, the increasing demand for spinal muscular atrophy treatment is further likely to propel the segment.

On the basis of technology, the carrier screening market is fragmented into polymerase chain reaction, microarrays, DNA sequencing, and others. The DNA sequencing segment held a large share of the market in 2021 and is expected to expand at a significant growth rate during the projection period due to a surge in the prevalence of genetic diseases. It is a highly accurate molecular test having capability to detect carriers across all ethnic groups. It detects all types of genomic DNA alterations. Growing awareness regarding genetic testing in the form of molecular diagnostics and next-generation sequencing with the implementation of technology is expected to fuel the segment.

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Based on end-user, the market is categorized into reference laboratories, clinics, hospitals, physicians, and others. The hospitals segment is projected to expand at a considerable CAGR during the assessment period owing to the increasing patient preferences for genetic testing in hospitals due to the wide availability of doctors and multi-specialty services. The ease of accessibility to hospitals is further likely to propel the market.

The laboratories segment is anticipated to hold a key share of the market in the coming years due to increasing investments by strategic investors to meet the growing demand for genetic testing. The investments are aimed at expanding specialized testing facilities and faster turnaround times. For instance, in November 2022, Redcliffe Labs invested nearly USD 10 Mn to expand its genetic testing capabilities.

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In terms of region, the global carrier screening market is classified as Asia Pacific, North America, Latin America, Europe, and Middle East & Africa. North America is expected to dominate the market during the projection period, owing to the high prevalence of genetic diseases and increase in the number of market players that provides screening tests in the region.

According to the World Health Organization (WHO), genetic illness is the primary cause of newborn mortality in the US. In 2019, nearly 2.4 Mn newborn babies died within the first month. Easy access to advanced screening techniques due to the presence of well-established healthcare infrastructure is further anticipated to fuel the market in the region.

The market in Asia Pacific is projected to grow at a rapid pace in the coming years owing to the growing demand for carrier screening tests from countries such as Japan, India, and China. The regional market growth is further attributed to the increasing government funding to support genetic tests and the rising emphasis on early disease detection & prevention due to the growing awareness regarding genetic diseases.

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